One of Cardiology's “great masqueraders” and the most common heritable cardiovascular disease with a heterogeneous clinical presentation, hypertrophic cardiomyopathy (HCM) has been investigated extensively over the past two decades affecting approximately 1 in 500 individuals. HCM is one of the primary causes of sudden death in young people and a significant cause of heart failure at any age. Once considered deadly, untreatable, and relentless as delays and mistakes in diagnosis abound, it has become a highly treatable disease, though contemporary with the help of genomic medicine. The continuous research and discovery of new HCM susceptibility genes, recent advances in the diagnosis and treatment of HCM, a growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM have been crucial in decreasing the frequency of adverse clinical events. However, complete elimination of sudden cardiac death remains an elusive gain. Therefore, it is essential that a modern-day basic or clinical physician, cardiologist, cardiac surgeons, and cardiovascular geneticist understand the diagnostic, prognostic, and therapeutic implications of HCM. This chapter aims to evaluate the new development and the novel achievements made compared to previous eras of the disease across published European registries. It also analyses the prevalent issues and misconceptions regarding HCM that persist among practicing physicians today. The chapter further focuses on the risk assessment, the various diagnosis and treatment therapies in children, adolescent, adults, and athletes in contrast to the current European set guidelines for the diagnosis and management of HCM patients.
Keywords: Atrial fibrillation, Athletes, Alcohol septal ablation, Cardiomyopathy, Cardiovascular pathology, Complications, Cardiac transplant, Children, Dual chamber pacing, Echocardiography, Genomics, Guidelines for eligibility and disqualification, Hypertrophic cardiomyopathy, Heart failure, Implantable cardioverter defibrillator, Inappropriate shock, Mortality, Reverse remodeling, Risk stratifications, Sudden cardiac death, Septal reduction therapy, Ventricular Arrhythmias.